Smcr8 (Smith-Magenis syndrome chromosome region, candidate 8 homolog (human)) - Rat Genome Database

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Gene: Smcr8 (Smith-Magenis syndrome chromosome region, candidate 8 homolog (human)) Mus musculus
Analyze
Symbol: Smcr8
Name: Smith-Magenis syndrome chromosome region, candidate 8 homolog (human)
RGD ID: 1614898
MGI Page MGI
Description: Predicted to enable protein kinase binding activity and protein kinase inhibitor activity. Predicted to contribute to guanyl-nucleotide exchange factor activity. Involved in regulation of autophagy. Located in cytoplasm; postsynapse; and presynapse. Orthologous to human SMCR8 (SMCR8-C9orf72 complex subunit).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: 2310076G09Rik; AI642055; D030073L15Rik; guanine nucleotide exchange protein SMCR8; MGC103295; Smith-Magenis syndrome chromosomal region candidate gene 8 protein homolog
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391160,668,351 - 60,679,113 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1160,668,350 - 60,679,113 (+)EnsemblGRCm39 Ensembl
GRCm381160,777,525 - 60,788,287 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1160,777,524 - 60,788,287 (+)EnsemblGRCm38mm10GRCm38
MGSCv371160,591,027 - 60,601,789 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361160,593,737 - 60,597,262 (+)NCBIMGSCv36mm8
MGSCv361161,208,627 - 61,212,152 (+)NCBIMGSCv36mm8
Cytogenetic Map11B2NCBI
cM Map1137.83NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10349636   PMID:11042159   PMID:11076861   PMID:11125038   PMID:11217851   PMID:12466851   PMID:12477932   PMID:12520002   PMID:15782199   PMID:16141072   PMID:16141073   PMID:17273973  
PMID:18287559   PMID:18799693   PMID:21267068   PMID:21873635   PMID:27103069   PMID:27617292   PMID:27875531   PMID:29950492   PMID:30442666   PMID:30696333   PMID:31625563   PMID:31651360  
PMID:31847700   PMID:32554809   PMID:38064514  


Genomics

Comparative Map Data
Smcr8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391160,668,351 - 60,679,113 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1160,668,350 - 60,679,113 (+)EnsemblGRCm39 Ensembl
GRCm381160,777,525 - 60,788,287 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1160,777,524 - 60,788,287 (+)EnsemblGRCm38mm10GRCm38
MGSCv371160,591,027 - 60,601,789 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361160,593,737 - 60,597,262 (+)NCBIMGSCv36mm8
MGSCv361161,208,627 - 61,212,152 (+)NCBIMGSCv36mm8
Cytogenetic Map11B2NCBI
cM Map1137.83NCBI
SMCR8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381718,315,293 - 18,328,056 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1718,315,293 - 18,328,056 (+)EnsemblGRCh38hg38GRCh38
GRCh371718,218,607 - 18,231,370 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361718,159,319 - 18,172,095 (+)NCBINCBI36Build 36hg18NCBI36
Build 341718,159,440 - 18,167,109NCBI
Celera1719,159,665 - 19,172,441 (+)NCBICelera
Cytogenetic Map17p11.2NCBI
HuRef1717,972,126 - 17,984,902 (+)NCBIHuRef
CHM1_11718,227,353 - 18,240,129 (+)NCBICHM1_1
T2T-CHM13v2.01718,262,099 - 18,274,862 (+)NCBIT2T-CHM13v2.0
Smcr8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81045,957,146 - 45,968,388 (+)NCBIGRCr8
mRatBN7.21045,457,962 - 45,465,101 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1045,457,605 - 45,468,876 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1050,159,207 - 50,166,360 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01049,649,603 - 49,656,756 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01045,153,192 - 45,160,345 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01047,019,326 - 47,026,465 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1047,018,974 - 47,026,465 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01046,791,502 - 46,798,641 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41046,924,224 - 46,931,363 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1044,712,528 - 44,719,666 (+)NCBICelera
Cytogenetic Map10q22NCBI
Smcr8
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495547811,002,174 - 11,015,123 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495547811,002,174 - 11,015,123 (-)NCBIChiLan1.0ChiLan1.0
SMCR8
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21952,939,905 - 52,952,684 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11757,651,042 - 57,663,823 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01732,858,205 - 32,871,132 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11737,884,037 - 37,897,031 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1737,884,037 - 37,896,972 (-)Ensemblpanpan1.1panPan2
SMCR8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ROS_Cfam_1.0541,356,732 - 41,369,920 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl541,361,422 - 41,369,287 (-)EnsemblROS_Cfam_1.0 Ensembl
Smcr8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560261,018,506 - 61,028,302 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367411,838,834 - 1,844,459 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367411,838,974 - 1,848,742 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SMCR8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1260,435,273 - 60,443,520 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11260,435,276 - 60,443,525 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
SMCR8
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11617,358,952 - 17,367,323 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1617,359,577 - 17,366,851 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660593,537,962 - 3,546,697 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Smcr8
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248493,149,121 - 3,159,273 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248493,147,251 - 3,159,358 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Smcr8
461 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1831
Count of miRNA genes:759
Interacting mature miRNAs:1005
Transcripts:ENSMUST00000056907, ENSMUST00000102667
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCm39)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
27226798Scvln18_msacral vertebrae length 2, 16 week (mouse)11325000060690826Mouse
26884446Sklq10_mskull length QTL 10, 10 week (mouse)11325000062890826Mouse
26884453Sklq16_mskull length QTL 16, 16 week (mouse)11325000072690826Mouse
13208559Wght10_mweight 10 (mouse)11395000088890826Mouse
13208558Lgth12_mbody length 12 (mouse)11395000094890826Mouse
1300905Scc6_mcolon tumor susceptibility 6 (mouse)Not determined11688027789019734Mouse
27226738Metcl11_mmetatarsal-calcaneal length 11, 10 week (mouse)11885000061390826Mouse
26884401Huml4_mhumerus length 4, 10 week (mouse)111155000068490826Mouse
27226762Feml21_mfemur length 21, 16 week (mouse)111175000065990826Mouse
1357640Orq2_movulation rate QTL 2 (mouse)Not determined111226863768500330Mouse
4141127W3q4_mweight 3 weeks QTL 4 (mouse)Not determined1226863768500330Mouse
4141470Egq4_mearly growth QTL 4 (mouse)Not determined1226863768500330Mouse
4142109W10q2_mweight 10 weeks QTL 2 (mouse)Not determined1226863768500330Mouse
4141582Lgaq1_mlate growth adjusted QTL 1 (mouse)Not determined1226863768500330Mouse
4142308W6q3_mweight 6 weeks QTL 3 (mouse)Not determined111226863768500330Mouse
4142216Lgq1_mlate growth QTL 1 (mouse)Not determined1226863768500330Mouse
4141966Tailq1_mtail length QTL 1 (mouse)Not determined1226863768500330Mouse
1357851Scfq3_msubcutaneous fat pad weight QTL 3 (mouse)Not determined111226863768500330Mouse
1357720Kidpq1_mkidney weight percentage QTL 1 (mouse)Not determined111226863768500330Mouse
1357437Epfq4_mepididymal fat pad weight QTL 4 (mouse)Not determined111226863768500330Mouse
1559002Lmrq4_mLeishmania major resistance QTL 4 (mouse)Not determined111226863769684947Mouse
39128214Lwq20_mliver weight QTL 20 (mouse)1112268637118022724Mouse
1558945Orgwq8_morgan weight QTL 8 (mouse)Not determined111705617567078411Mouse
10053687Eae6_msusceptibility to experimental allergic encephalomyelitis 6 (mouse)Not determined111778196668500330Mouse
4141894Nidd6k_mNidd6 on KK-A (mouse)Not determined1912420496897826Mouse
10412246Dfs2_mdental fluorosis suseptibility 2 (mouse)Not determined112180736495881231Mouse
1357844Si5lq5_mserum IGFBP-5 level QTL 5 (mouse)Not determined112816587362165976Mouse
13524848Ppiq7_mprepulse inhibition QTL 7 (mouse)112856914762569147Mouse
1301426Desp2_mdespair 2 (mouse)Not determined112870858162708700Mouse
11522752Cocia18_mcocaine-induced activity, QTL 18 (mouse)113100820965008209Mouse
11059563Lmr31_mleishmaniasis resistance 31 (mouse)113210057766100694Mouse
1357782Char8_mP. chabaudi malaria resistance QTL 8 (mouse)Not determined113557861669684987Mouse
13208569Bmiq10_mbody mass index QTL 10 (mouse)113589082784890826Mouse
1301328Mol4_mmodifier of LPS-response 4 (mouse)Not determined113628257783481356Mouse
1301788Lbw8_mlupus NZB x NZW 8 (mouse)Not determined113650328770509492Mouse
1301896Tria1_mT-cell receptor induced activation 1 (mouse)Not determined113661356570613855Mouse
4141853Skmw17_mskeletal muscle weight 17 (mouse)Not determined113708094171081064Mouse
10766457Nwa3_mNew Zealand White autoimmunity 3 (mouse)113801611572016209Mouse
11532698Sluc36a_msusceptibility to lung cancer 36a (mouse)114225661776256730Mouse
11532699Sluc36b_msusceptibility to lung cancer 36b (mouse)114225661776256730Mouse
4142300Ctrq3_mC. trachomatis resistance QTL 3 (mouse)Not determined114463003876854757Mouse
4141367Inf1_macute ozone induced inflammation (mouse)Not determined44630038113058009Mouse
1302021Nidd1n_mnon-insulin-dependent diabetes mellitus 1 in NSY (mouse)Not determined114516587379978324Mouse
1357878Mastr_mmodifier of astrocytoma (mouse)Not determined114570858189818733Mouse
1300765Bbaa4_mB.burgdorferi-associated arthritis 4 (mouse)Not determined114618516780185262Mouse
1301988Bmd11_mbone mineral density 11 (mouse)Not determined114631940780319522Mouse
1301830Ssta4_msusceptibility to Salmonella typhimurium antigens 4 (mouse)Not determined115007819184078411Mouse
13524840Ppiq9a_mprepulse inhibition QTL 9a (mouse)115249438586494385Mouse
1300774Pgia7_mproteoglycan induced arthritis 7 (mouse)Not determined115339058887390737Mouse
4141084Spqq1_msperm quality QTL 1 (mouse)Not determined5406567063319522Mouse
1302186Blmpf2_mbleomycin-induced pulmonary fibrosis 2 (mouse)Not determined115406567067078411Mouse
4142148Ckdbp2_mchronic kidney disease blood pressure locus 2 (mouse)Not determined115408094165103841Mouse
4141830Pregq1_mpregnancy QTL 1 (mouse)Not determined115412675283733652Mouse
4141875Etax9_methanol induced ataxia 9 (mouse)Not determined5528498572209927Mouse
4142121Tmc1m2_mTmc1 modifier 2 (mouse)Not determined1156864027114157957Mouse
1300664Etohcta9_methanol conditioned taste aversion 9 (mouse)Not determined115775466091754758Mouse
10053682Eae45_mexperimental allergic encephalomyelitis susceptibility 45 (mouse)Not determined115849055574754758Mouse
1300924Ity2_mimmunity to S. typhimurium 2 (mouse)Not determined15850803087695238Mouse
4141982Skts-fp2_mskin tumor susceptibility in FVB and PWK 2 (mouse)Not determined5871926685066529Mouse
11532697Sluc36_msusceptibility to lung cancer 36 (mouse)115925661769482699Mouse

Markers in Region
RH128681  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381160,788,031 - 60,788,220UniSTSGRCm38
MGSCv371160,601,533 - 60,601,722UniSTSGRCm37
Cytogenetic Map11B2UniSTS
AI642055  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381160,787,892 - 60,788,039UniSTSGRCm38
MGSCv371160,601,394 - 60,601,541UniSTSGRCm37
Cytogenetic Map11B2UniSTS
Whitehead/MRC_RH11801.97UniSTS


Expression


Sequence


RefSeq Acc Id: ENSMUST00000056907   ⟹   ENSMUSP00000055926
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1160,668,351 - 60,679,113 (+)Ensembl
GRCm38.p6 Ensembl1160,777,525 - 60,788,287 (+)Ensembl
RefSeq Acc Id: ENSMUST00000102667   ⟹   ENSMUSP00000099728
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1160,668,350 - 60,671,893 (+)Ensembl
GRCm38.p6 Ensembl1160,777,524 - 60,781,067 (+)Ensembl
RefSeq Acc Id: NM_001085440   ⟹   NP_001078909
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391160,668,351 - 60,679,113 (+)NCBI
GRCm381160,777,525 - 60,788,287 (+)ENTREZGENE
MGSCv371160,591,027 - 60,601,789 (+)RGD
cM Map11 ENTREZGENE
Sequence:
RefSeq Acc Id: NM_175491   ⟹   NP_780700
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391160,668,351 - 60,671,893 (+)NCBI
GRCm381160,777,525 - 60,781,067 (+)NCBI
MGSCv371160,591,027 - 60,601,789 (+)RGD
cM Map11 ENTREZGENE
Sequence:
RefSeq Acc Id: NP_780700   ⟸   NM_175491
- Peptide Label: isoform 2
- UniProtKB: Q3UMB5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001078909   ⟸   NM_001085440
- Peptide Label: isoform 1
- UniProtKB: Q8BNG6 (UniProtKB/Swiss-Prot),   Q5U4H2 (UniProtKB/Swiss-Prot),   Q8C704 (UniProtKB/Swiss-Prot),   Q3UMB5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSMUSP00000055926   ⟸   ENSMUST00000056907
RefSeq Acc Id: ENSMUSP00000099728   ⟸   ENSMUST00000102667
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q3UMB5-F1-model_v2 AlphaFold Q3UMB5 1-935 view protein structure

Promoters
RGD ID:6822172
Promoter ID:MM_KWN:7741
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:3T3L1_Day0,   3T3L1_Day1,   3T3L1_Day2,   3T3L1_Day3,   3T3L1_Day4,   3T3L1_Day6,   BoneMarrow_0Hour,   BoneMarrow_2Hour,   BoneMarrow_4Hour,   Brain,   ES_Cell,   Kidney,   Liver,   Lung,   MEF_B4,   MEF_B6,   Spleen
Transcripts:ENSMUST00000101115,   ENSMUST00000117743,   ENSMUST00000120417,   NM_001085440,   NM_175491,   OTTMUST00000017705,   OTTMUST00000017707,   UC007JGM.1
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv361160,590,121 - 60,595,002 (+)MPROMDB
RGD ID:8674896
Promoter ID:EPDNEW_M15479
Type:multiple initiation site
Name:Smcr8_1
Description:Mus musculus Smith-Magenis syndrome chromosome region, candidate8 homolog , transcript variant 1, mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm381160,777,538 - 60,777,598EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:2444720 AgrOrtholog
Ensembl Genes ENSMUSG00000049323 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENSMUST00000056907 ENTREZGENE
  ENSMUST00000056907.7 UniProtKB/Swiss-Prot
  ENSMUST00000102667 ENTREZGENE
  ENSMUST00000102667.5 UniProtKB/Swiss-Prot
InterPro FLCN/SMCR8_DENN UniProtKB/Swiss-Prot
  Folliculin/SMCR8_N UniProtKB/Swiss-Prot
KEGG Report mmu:237782 UniProtKB/Swiss-Prot
MGD MGI:2444720 ENTREZGENE
NCBI Gene 237782 ENTREZGENE
PANTHER GUANINE NUCLEOTIDE EXCHANGE PROTEIN SMCR8 UniProtKB/Swiss-Prot
  SMITH-MAGENIS SYNDROME REGION GENE 8 PROTEIN UniProtKB/Swiss-Prot
Pfam Folliculin UniProtKB/Swiss-Prot
PhenoGen Smcr8 PhenoGen
PROSITE DENN_FLCN_SMCR8 UniProtKB/Swiss-Prot
UniProt Q3UMB5 ENTREZGENE
  Q5U4H2 ENTREZGENE
  Q8BNG6 ENTREZGENE
  Q8C704 ENTREZGENE
  SMCR8_MOUSE UniProtKB/Swiss-Prot
UniProt Secondary Q5U4H2 UniProtKB/Swiss-Prot
  Q8BNG6 UniProtKB/Swiss-Prot
  Q8C704 UniProtKB/Swiss-Prot